This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.
What is Multiple Sclerosis?
Multiple sclerosis is an immune-mediated disease that affects the brain and spinal cord. MS is considered to be immune-mediated instead of autoimmune because the exact target of the immune cells is unknown. In this disease, the body’s own immune system attacks and degrades the myelin sheath that protect nerve fibers. This causes communication between the brain and the rest of the body to be hindered [1]. As the disease progresses the nerves themselves can begin to degrade and permanently damaged. The symptoms can be varied due to the signals sent by the brain through the nerves becoming distorted. MS has four disease courses with varying severities [2].
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Possible Causes of Multiple Sclerosis
The exact cause of multiple sclerosis is unknown today however there are many studies ongoing in the areas of genetics, immunology, and epidemiology. There are also some scientists studying any possible infectious agent that could cause MS. As current research stands, MS is not an inheritable disease but having a parent or sibling with it can increase the chances of developing the disease. There is evidence that shows that certain populations with higher prevalence of MS have common genetic factors and some researchers believe that environmental agents can trigger an immune response for people carrying certain genetic factors. Recent research has shown promise in determining which immune cells are attacking, the factors that cause this, and the receptors on the attacking cells attracted to the myelin sheath [3].
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Gene and Protein function
The human LXRA gene is located on the short arm (p) of chromosome 11. LXRA is also known has NR1H3, in the nuclear receptor family. This family codes for regulators of macrophages that control lipid homeostasis and inflammation [4]. LXR proteins form heterodimers with retinoid X receptor proteins. There are two isoforms that are closely related, alpha and beta [5].
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Symptoms of Multiple Sclerosis
Signs of MS can begin anywhere from age 20 to 40. The early signs of MS can be quite varied with the common ones being: fatigue, weakness, tingling, blurred vision, and muscular and neurologic pain. Some of the vision problems observed include: eye discomfort, vision loss beginning in one eye, double vision, and uncontrolled eye movements [6]. There can be signs of facial pain, muscle twitching, or weakness along with painful muscle spasms. There can also be balance, thinking, and emotional problems such as hearing loss, dizziness, memory loss, inability to focus, and poor judgment. Bladder and bowel problems may arise due to MS. There can be muscle issues that can impair walking and moving of the limbs along with coordination issues and difficulty speaking or swallowing [6].
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Treatment for Multiple Sclerosis
Unfortunately, there is no cure for multiple sclerosis. Most treatment tries to speed up recovery from an attack, slow progression of the disease, or manage the symptoms. Treatment of attacks includes corticosteroids to reduce nerve inflammation and plasma exchange if the body has not responded to the corticosteroids. To treat the progression of MS there are multiple different drugs available that affect different biological process associated with the disease. Along with drugs that can be taken, patients with MS can go through physical therapy to learn how to perform daily tasks easier. They can also take muscle relaxants and other pain management drugs for specific symptoms [7]. There are some clinical trials in progress that perform bone marrow stem cell transplants to “reboot” the immune system. As of now, there are mixed results regarding the stem cell therapy.
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Multiple Sclerosis Societies
References
[Header Image] Silva, P. P. (2015, May 14). Celiac Disease Found to Be Linked to Increased Risk of Multiple Sclerosis, Nerve Damage. Retrieved February 06, 2018, from https://multiplesclerosisnewstoday.com/2015/05/14/celiac-disease-found-linked-increased-risk-multiple-sclerosis-nerve-damage/
[1] Multiple sclerosis. (2017, August 04). Retrieved February 01, 2018, from https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269
[2] Definition of MS. (n.d.). Retrieved February 01, 2018, from https://www.nationalmssociety.org/What-is-MS/Definition-of-MS
[3] What Causes MS? (n.d.). Retrieved February 01, 2018, from https://www.nationalmssociety.org/What-is-MS/What-Causes-MS
[4] NR1H3 nuclear receptor subfamily 1 group H member 3 [Homo sapiens (human)] - Gene - NCBI. (n.d.). Retrieved February 03, 2018, from https://www.ncbi.nlm.nih.gov/gene/10062
[5] Database, G. H. (n.d.). NR1H3 Gene(Protein Coding). Retrieved February 03, 2018, from http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1H3
[6] PhD, C. P. (n.d.). 20 Early MS Symptoms (Pain), Warning Signs, Treatment & Diagnosis. Retrieved February 05, 2018, from https://www.medicinenet.com/ms_multiple_sclerosis_symptoms_and_treatments/article.htm
[7] Multiple sclerosis. (2017, August 04). Retrieved February 06, 2018, from https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/diagnosis-treatment/drc-20350274
[1] Multiple sclerosis. (2017, August 04). Retrieved February 01, 2018, from https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269
[2] Definition of MS. (n.d.). Retrieved February 01, 2018, from https://www.nationalmssociety.org/What-is-MS/Definition-of-MS
[3] What Causes MS? (n.d.). Retrieved February 01, 2018, from https://www.nationalmssociety.org/What-is-MS/What-Causes-MS
[4] NR1H3 nuclear receptor subfamily 1 group H member 3 [Homo sapiens (human)] - Gene - NCBI. (n.d.). Retrieved February 03, 2018, from https://www.ncbi.nlm.nih.gov/gene/10062
[5] Database, G. H. (n.d.). NR1H3 Gene(Protein Coding). Retrieved February 03, 2018, from http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1H3
[6] PhD, C. P. (n.d.). 20 Early MS Symptoms (Pain), Warning Signs, Treatment & Diagnosis. Retrieved February 05, 2018, from https://www.medicinenet.com/ms_multiple_sclerosis_symptoms_and_treatments/article.htm
[7] Multiple sclerosis. (2017, August 04). Retrieved February 06, 2018, from https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/diagnosis-treatment/drc-20350274
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